FS302 - Marion Downs Lecture: Genetics of Pediatric Hearing Loss in the Age of Precision Medicine: From Newborn Screen to Novel Gene

Abstract:
Pediatric sensorineural hearing loss is a common diagnosis and most often can be attributed to a single underlying genetic etiology. Understanding and diagnosing the specific etiology has important implications for children and families. This becomes increasingly relevant in the context of potential targeted gene therapy for hearing loss. Early and accurate diagnosis can have critical implications, and audiology professionals are often the first clinicians to interact with a pediatric SNHL patient. Establishing strong and collaborative relationships between genetics professionals, otolaryngologists and audiologists can increase positive outcomes and experiences for families.

Summary:
An estimated 40 to 60% of all pediatric SNHL can be attributed to a single genetic cause. Increased understanding of the genetic etiologies of hearing loss as well as increased availability of comprehensive genetic and genomic testing has rendered genetic evaluation an important aspect of the diagnostic evaluation of pediatric SNHL. This session will explore the clinical utility of genetic testing in supporting children and families and as part of a holistic approach to diagnosis and management. Understanding the genetic etiology of hearing loss allows clinicians to understand the prognosis for the hearing loss, whether the hearing loss is syndromic or nonsyndromic, and chance for recurrence of hearing loss in the family; it also has the potential to facilitate familial empowerment and connection to community. As gene therapy for hearing loss approaches reality, the role for comprehensive and timely genetic testing takes on new meaning. An intermediate level of instruction was selected for this session as we do make assumptions that the audience will have a basic understanding of key concepts in pediatric SNHL, but will cover basic concepts in genetics and build from there to facilitate an understanding for the role that audiology professionals may play in advocating for and supporting families throughout the genetic testing process as well as how audiology professionals may work with genetics professionals and otolaryngologists to facilitate diagnosis for families. Engagement with the audience will include polling for perspectives and knowledge on these topics. We will cover the current state of the field and available genetic testing technologies.

Brief Summary of Clinical Takeaways:
Assessing for an underlying genetic etiology for pediatric SNHL is an increasingly critical part of diagnostic evaluation. Audiology professionals should work together with genetics professionals to facilitate positive and productive experiences for families and patients.